SFXN4_DANRE
ID SFXN4_DANRE Reviewed; 316 AA.
AC A8E7G5; Q08CE5;
DT 19-MAR-2014, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 1.
DT 03-AUG-2022, entry version 78.
DE RecName: Full=Sideroflexin-4 {ECO:0000303|PubMed:24119684};
GN Name=sfxn4 {ECO:0000303|PubMed:24119684};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Larva;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP SUBCELLULAR LOCATION, AND DISRUPTION PHENOTYPE.
RX PubMed=24119684; DOI=10.1016/j.ajhg.2013.09.011;
RA Hildick-Smith G.J., Cooney J.D., Garone C., Kremer L.S., Haack T.B.,
RA Thon J.N., Miyata N., Lieber D.S., Calvo S.E., Akman H.O., Yien Y.Y.,
RA Huston N.C., Branco D.S., Shah D.I., Freedman M.L., Koehler C.M.,
RA Italiano J.E. Jr., Merkenschlager A., Beblo S., Strom T.M., Meitinger T.,
RA Freisinger P., Donati M.A., Prokisch H., Mootha V.K., DiMauro S., Paw B.H.;
RT "Macrocytic anemia and mitochondriopathy resulting from a defect in
RT sideroflexin 4.";
RL Am. J. Hum. Genet. 93:906-914(2013).
CC -!- FUNCTION: Mitochondrial amino-acid transporter (By similarity). Does
CC not act as a serine transporter: not able to mediate transport of
CC serine into mitochondria (By similarity).
CC {ECO:0000250|UniProtKB:Q6P4A7, ECO:0000250|UniProtKB:Q9H9B4}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:24119684}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC erythroid abnormality and global defects in respiratory-chain activity.
CC Morphant embryos exhibit erythrocytes with enlarged nuclei containing
CC open chromatin, consistent with maturation arrest. The
CC nuclear/cytoplasmic ratio is increased nearly 3-fold. Anemia cannot be
CC rescued neither by exogenous folate or vitamin B12 supplementation, nor
CC by N-acetylcysteine treatment. {ECO:0000269|PubMed:24119684}.
CC -!- SIMILARITY: Belongs to the sideroflexin family. {ECO:0000305}.
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DR EMBL; BX248127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC124271; AAI24272.1; -; mRNA.
DR RefSeq; NP_001070130.1; NM_001076662.1.
DR AlphaFoldDB; A8E7G5; -.
DR STRING; 7955.ENSDARP00000092724; -.
DR PaxDb; A8E7G5; -.
DR PeptideAtlas; A8E7G5; -.
DR Ensembl; ENSDART00000101949; ENSDARP00000092724; ENSDARG00000069832.
DR GeneID; 556121; -.
DR KEGG; dre:556121; -.
DR CTD; 119559; -.
DR ZFIN; ZDB-GENE-050309-187; sfxn4.
DR eggNOG; KOG3767; Eukaryota.
DR GeneTree; ENSGT01030000234641; -.
DR HOGENOM; CLU_039425_3_1_1; -.
DR InParanoid; A8E7G5; -.
DR OMA; SYTTCAG; -.
DR OrthoDB; 881974at2759; -.
DR PhylomeDB; A8E7G5; -.
DR TreeFam; TF313205; -.
DR PRO; PR:A8E7G5; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 13.
DR Bgee; ENSDARG00000069832; Expressed in heart and 23 other tissues.
DR GO; GO:0031305; C:integral component of mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:ZFIN.
DR GO; GO:0015075; F:ion transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006865; P:amino acid transport; IEA:UniProtKB-KW.
DR GO; GO:0045333; P:cellular respiration; IMP:ZFIN.
DR GO; GO:0030218; P:erythrocyte differentiation; IMP:ZFIN.
DR GO; GO:1990542; P:mitochondrial transmembrane transport; IBA:GO_Central.
DR InterPro; IPR004686; Mtc.
DR InterPro; IPR028825; SFXN4.
DR PANTHER; PTHR11153; PTHR11153; 1.
DR PANTHER; PTHR11153:SF3; PTHR11153:SF3; 1.
DR Pfam; PF03820; SFXNs; 1.
PE 2: Evidence at transcript level;
KW Amino-acid transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..316
FT /note="Sideroflexin-4"
FT /id="PRO_0000425598"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 141..161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 174..194
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 230..250
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 263..283
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CONFLICT 115
FT /note="T -> A (in Ref. 2; AAI24272)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 316 AA; 34567 MW; 28F2FFD708534EDA CRC64;
MDPNLQYWQN NGQSFLSRLG LWSKILDPTL LLSQAEIEEA RTLIQNEENT PGKNDKVSNA
WLLSLSSVHS DTGAVISPAY RPQVFLPISA PLVVGSLIAH KGIKSAMFWQ FVLHTYCAGF
NHANRNATAT KDNKTTMKQS LLILGAVSYS TVTGALPQII LQRLRLISSL TQTICRSFLP
VPLAAGLAAF NILVVRSEEA ENGISLFDAN GNAVGVSKEA GFKAVKETAI SRATLFGTTA
ALPTFLMALL ERAKFVQRNP RLIAPIGSMC TVITFGLMIP VSFSLFPQLG KIKKENLEKE
FQSLDGNEEL FYHRGL
